Vanessa Ferreira

Dr. Vanessa Ferreira


Research Focus & Metrics

Academic Career Length

16Years (2011-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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27 November 2019 in Genes
Verified
Journal Article
Open access
PDF file
SBSandra Brasil
Sandra Brasil
CPCarlota Pascoal
Carlota Pascoal
RFRita Francisco
Rita Francisco
VFVanessa Ferreira
Vanessa Ferreira
PVPaula Videira
Paula Videira
GVGonçalo Valadão
Gonçalo Valadão
The amount of data collected and managed in (bio)medicine is ever-increasing. Thus, there is a need to rapidly and efficiently collect, analyze, and characterize all this information. Artificial intelligence (AI), with an emphasis on deep learning, holds great promise in this area and is already being successfully applied to basic research, diagnosis, drug discovery, and clinical trials. Rare diseases (RDs), which are severely underrepresented in basic and clinical research, can particularly benefit from AI technologies. Of the more than 7000 RDs described worldwide, only 5% have a treatment. The ability of AI technologies to integrate and analyze data from different sources (e.g., multi-omics, patient registries, and so on) can be used to overcome RDs’ challenges (e.g., low diagnostic rates, reduced number of patients, geographical dispersion, and so on). Ultimately, RDs’ AI-mediated knowledge could significantly boost therapy development. Presently, there are AI approaches being used in RDs and this review aims to collect and summarize these advances. A section dedicated to congenital disorders of glycosylation (CDG), a particular group of orphan RDs that can serve as a potential study model for other common diseases and RDs, has also been included.

20 January 2017 in Journal of Inherited Metabolic Disease
Verified
Journal Article
Closed access
DMD. Marques‐Da‐Silva
D. Marques‐Da‐Silva
VFVanessa Ferreira
Vanessa Ferreira
Maria MonticelliMaria Monticelli
Maria Monticelli
PJP. Janeiro
P. Janeiro
PVPaula Videira
Paula Videira
DCDavid Cassiman
David Cassiman

Verified
Journal Article
Open access
PDF file
SBSandra Brasil
Sandra Brasil
CPCarlota Pascoal
Carlota Pascoal
RFRita Francisco
Rita Francisco
DMDorinda Marques-da-Silva
Dorinda Marques-da-Silva
Giuseppina AndreottiGiuseppina Andreotti
Giuseppina Andreotti
VFVanessa Ferreira
Vanessa Ferreira
Congenital disorders of glycosylation (CDG) are a group of genetic disorders that affect protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. More than 100 different disorders have been reported and the number is rapidly increasing. Since glycosylation is an essential post-translational process, patients present a large range of symptoms and variable phenotypes, from very mild to extremely severe. Only for few CDG, potentially curative therapies are being used, including dietary supplementation (e.g., galactose for PGM1-CDG, fucose for SLC35C1-CDG, Mn2+ for TMEM165-CDG or mannose for MPI-CDG) and organ transplantation (e.g., liver for MPI-CDG and heart for DOLK-CDG). However, for the majority of patients, only symptomatic and preventive treatments are in use. This constitutes a burden for patients, care-givers and ultimately the healthcare system. Innovative diagnostic approaches, in vitro and in vivo models and novel biomarkers have been developed that can lead to novel therapeutic avenues aiming to ameliorate the patients’ symptoms and lives. This review summarizes the advances in therapeutic approaches for CDG.

19 October 2023 in Orphanet Journal of Rare Diseases
Verified
Journal Article
Open access
PDF file
RFRita Francisco
Rita Francisco
SBSandra Brasil
Sandra Brasil
JPJoana Poejo
Joana Poejo
JJJaak Jaeken
Jaak Jaeken
CPCarlota Pascoal
Carlota Pascoal
VFVanessa Ferreira
Vanessa Ferreira
Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of rare metabolic diseases. With a clinical history that dates back over 40 years, it was the recent multi-omics advances that mainly contributed to the fast-paced and encouraging developments in the field. However, much remains to be understood, with targeted therapies' discovery and approval being the most urgent unmet need. In this paper, we present the 2022 state of the art of CDG, including glycosylation pathways, phenotypes, genotypes, inheritance patterns, biomarkers, disease models, and treatments. In light of our current knowledge, it is not always clear whether a specific disease should be classified as a CDG. This can create ambiguity among professionals leading to confusion and misguidance, consequently affecting the patients and their families. This review aims to provide the CDG community with a comprehensive overview of the recent progress made in this field.

19 July 2017 in Journal of Inherited Metabolic Disease
Verified
Journal Article
Closed access
PDF file
DMD. Marques‐Da‐Silva
D. Marques‐Da‐Silva
RFRita Francisco
Rita Francisco
DWD. Webster
D. Webster
VFVanessa Ferreira
Vanessa Ferreira
JJJ. Jaeken
J. Jaeken
Dr. Thomas PulinilkunnilDr. Thomas Pulinilkunnil
Dr. Thomas Pulinilkunnil

8 July 2016 in Journal of Inherited Metabolic Disease
Verified
Journal Article
Closed access
Maria MonticelliMaria Monticelli
Maria Monticelli
TFTiago Ferro
Tiago Ferro
JJJaak Jaeken
Jaak Jaeken
VFVanessa Ferreira
Vanessa Ferreira
PVPaula Videira
Paula Videira